Where ethics and diagnoses collide – a case of congenital myasthenic syndrome

Neonatal congenital myasthenic syndrome (CMS) is a rare and life-threatening condition characterised by hypotonia and poor or absent respiratory effort; it may prove fatal. Managing this condition can be challenging due to difficult ventilation often needing high pressures, ventilator dependence and the lack of parallel planning involving palliative conversations.

Dr Muhammad Saif Jalal
Neonatal SHO

Dr Abdullah A Khan
Neonatal Registrar

Dr Saer Almeree
Neonatal Consultant

Jalal M.S., Khan A.A., Almeree S. Where ethics and diagnoses collide – a case of congenital myasthenic syndrome. Infant 2025; 21(3): 82-83.

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Keywords

congenital myasthenic syndrome; hypotonia; ventilation; palliative; consanguineous

Key points

Neonatal congenital myasthenic syndrome is rare and life-threatening.
The suggested treatment is oral salbutamol to manage symptoms.
Ventilation can prove difficult and high pressures are required.
Long-term ventilation can lead to ventilator dependence.
Palliative conversations need to be planned.

Also published in Infant:

VOLUME 17/ISSUE 4, JULY 2021

Facial paralysis in Haddad syndrome: a case report of Ondine-Hirschsprung’s syndrome with a novel clinical feature

Haddad syndrome is a rare congenital disease that results in an autonomic nervous system dysfunction leading to respiratory failure due to loss of vagal input. In this article we report the case of a newborn male with central hypoventilation syndrome and Hirschsprung’s disease who presented with a facial paralysis – a new clinical presentation in Haddad syndrome. As this disease is not common, we describe the process in which the multidisciplinary team approached the patient and discuss the clinical and genetic aspects, aetiology and treatment.